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Alzheimer's disease variant portal (ADVP): a catalog of genetic findings for Alzheimer's disease
medRxiv - Genetic and Genomic Medicine Pub Date : 2021-03-03 , DOI: 10.1101/2020.09.29.20203950
Pavel P Kuksa , Chia-Lun Lui , Wei Fu , Liming Qu , Yi Zhao , Zivadin Katanic , Amanda B Kuzma , Pei-Chuan Ho , Kai-Teh Tzeng , Otto Valladares , Shin-Yi Chou , Adam C Naj , Gerard D Schellenberg , Li-San Wang , Yuk Yee Leung

Alzheimer's Disease (AD) genetics has made substantial progress through genome-wide association studies (GWASs). An up-to-date resource providing harmonized, searchable information on AD genetic variants with linking to genes and supporting functional evidence is needed. We developed the Alzheimer's Disease Variant Portal (ADVP), an extensive collection of associations curated from >200 GWAS publications from Alzheimer's Disease Genetics Consortium (ADGC) and other researchers. Publications are reviewed systematically to extract top associations for harmonization and genomic annotation. ADVP V1.0 catalogs 6,990 associations with disease-risk, expression quantitative traits, endophenotypes and neuropathology across >900 loci, >1,800 variants, >80 cohorts, and 8 populations. ADVP integrates with NIAGADS Alzheimer's GenomicsDB where investigators can cross-reference other functional evidence. ADVP is a valuable resource for investigators to quickly and systematically explore high-confidence AD genetic findings and provides insights into population- and tissue- specific AD genetic architecture. ADVP is continually maintained and enhanced by NIAGADS and is freely accessible (https://advp.niagads.org).

中文翻译:

阿尔茨海默氏病变种门户网站(ADVP):阿尔茨海默氏病遗传发现的目录

通过全基因组关联研究(GWAS),阿尔茨海默氏病(AD)遗传学已取得实质性进展。需要提供最新的资源,以提供有关AD遗传变异的统一,可搜索的信息,以及与基因的链接和支持功能的证据。我们开发了阿尔茨海默氏病变体门户网站(ADVP),该协会收集了来自阿尔茨海默氏病遗传学财团(ADGC)和其他研究人员的200多个GWAS出版物中策划的广泛关联。系统地审查出版物,以提取用于协调和基因组注释的顶级关联。ADVP V1.0在超过900个基因座,> 1,800个变异体,> 80个队列和8个人群中,将6,990种与疾病风险,表达定量性状,内表型和神经病理学的关联分类。ADVP与NIAGADS Alzheimer'集成 GenomicsDB,研究人员可以在其中交叉引用其他功能证据。ADVP是研究人员快速系统地探索高可信度AD遗传发现的宝贵资源,并提供了针对特定人群和组织的AD遗传结构的见解。NIAGADS不断维护和增强ADVP,并且可以免费访问(https://advp.niagads.org)。
更新日期:2021-03-03
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